ClinVar Miner

Submissions for variant NM_031372.4(HNRNPDL):c.814_815delinsAT (p.Glu272Ile)

dbSNP: rs2110028841
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001968410 SCV002239918 uncertain significance Autosomal dominant limb-girdle muscular dystrophy type 1G 2021-07-08 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Not Available"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Not Available"). This variant has not been reported in the literature in individuals affected with HNRNPDL-related conditions. The frequency data for this variant in the population databases is not available, as this variant may be reported as separate entries in the ExAC database. This sequence change replaces glutamic acid with isoleucine at codon 272 of the HNRNPDL protein (p.Glu272Ile). The glutamic acid residue is highly conserved and there is a moderate physicochemical difference between glutamic acid and isoleucine.
Revvity Omics, Revvity RCV001968410 SCV003808709 uncertain significance Autosomal dominant limb-girdle muscular dystrophy type 1G 2019-12-16 criteria provided, single submitter clinical testing

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